Rare Disease Day

Jackson Coghlan was diagnosed with Leber’s congential amaurosis aged two and half months.

Today is Rare Disease Day – a day that marks an opportunity for the rare disease community to come together and discuss successes and ongoing challenges, shining a light on the lives and experiences of those living with rare conditions.

The phrase “individually rare, collectedly common” highlights the challenge of rare disease, with an estimated 3.5 million people living with a rare condition in the UK, and rare eye conditions contributing a significant amount to this number. In fact, inherited retinal dystrophies are now the leading cause of sight loss in the working age population within the UK. 75 percent of people of working age and living with sight loss are not in employment - the highest of any disability area.

It could be argued that for those living with rare eye conditions, we are living in a time of hope. For a long time the vast majority of those living with rare eye conditions struggled to obtain an adequate diagnosis, or a timeline of disease progression. However, with improved genetic testing and imaging, diagnosis has improved and effective treatments are almost a reality with the ongoing development of exciting new therapies across a number of rare eye conditions.

For example, a clinical trial for Leber congenital amaurosis type 10 (LCA10), has had very promising results for trial patients with Fight for Sight funding the initial research. However, we must exercise caution. Research has built the foundation of these successes, but these therapies while incredibly promising, are not a panacea. There remain significant access challenges for rare disease medicines, and more needs to be done to break down these barriers.

The Government focus to make the UK the world-leading country in the area of genomics has seen new genes discovered through The 100,000 Genomes Project and the Inherited Retinal Dystrophy Consortium of which Fight for Sight has been a funder. The first Genomic Medicine Service in the world has been rolled out in England looking to embed genomics within routine clinical practice in tandem with the recent announcement of a national genomic healthcare strategy. Fight for Sight will monitor what this means in reality for patients with rare eye conditions closely.

On this Rare Disease Day, we fully support the Rare Disease UK Report Illuminating the Rare Reality that calls for a review and refresh of the UK Strategy for Rare Diseases. It’s imperative that we have a new roadmap post-2020, so that the future for rare disease patients is as bright as possible.